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Aliases for CHKB Gene

Aliases for CHKB Gene

  • Choline Kinase Beta 2 3 4 5
  • Choline Kinase-Like Protein 3 4
  • Ethanolamine Kinase Beta 3 4
  • CHETK 3 4
  • CKEKB 3 4
  • CHKL 3 4
  • CKB 3 4
  • EKB 3 4
  • CK 3 4
  • EK 3 4
  • Choline/Ethanolamine Kinase Beta 4
  • Ethanolamine Kinase 4
  • Choline Kinase-Like 2
  • EC 2.7.1.32 4
  • EC 2.7.1.82 4
  • MDCMC 3

External Ids for CHKB Gene

Previous HGNC Symbols for CHKB Gene

  • CHKL

Previous GeneCards Identifiers for CHKB Gene

  • GC22M049149
  • GC22M049298
  • GC22M049307
  • GC22M049364
  • GC22M051007
  • GC22M033908
  • GC22M051017

Summaries for CHKB Gene

Entrez Gene Summary for CHKB Gene

  • Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

GeneCards Summary for CHKB Gene

CHKB (Choline Kinase Beta) is a Protein Coding gene. Diseases associated with CHKB include muscular dystrophy, congenital, megaconial type and chkb-related muscle diseases. Among its related pathways are Phospholipase D signaling pathway and Glycerophospholipid biosynthesis. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and choline kinase activity. An important paralog of this gene is ETNK2.

UniProtKB/Swiss-Prot for CHKB Gene

  • Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.

Gene Wiki entry for CHKB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHKB Gene

Genomics for CHKB Gene

Regulatory Elements for CHKB Gene

Enhancers for CHKB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHKB on UCSC Golden Path with GeneCards custom track

Promoters for CHKB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHKB on UCSC Golden Path with GeneCards custom track

Genomic Location for CHKB Gene

Chromosome:
22
Start:
50,578,949 bp from pter
End:
50,601,455 bp from pter
Size:
22,507 bases
Orientation:
Minus strand

Genomic View for CHKB Gene

Genes around CHKB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHKB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHKB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHKB Gene

Proteins for CHKB Gene

  • Protein details for CHKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y259-CHKB_HUMAN
    Recommended name:
    Choline/ethanolamine kinase
    Protein Accession:
    Q9Y259
    Secondary Accessions:
    • A0PJM6
    • Q13388

    Protein attributes for CHKB Gene

    Size:
    395 amino acids
    Molecular mass:
    45271 Da
    Quaternary structure:
    • Homodimer, and heterodimer with CHKA.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the CPT1B protein from a non-overlapping reading frame.
    SequenceCaution:
    • Sequence=AAB03342.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHKB Gene

    Alternative splice isoforms for CHKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHKB Gene

Proteomics data for CHKB Gene at MOPED

Post-translational modifications for CHKB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHKB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHKB Gene

Domains & Families for CHKB Gene

Protein Domains for CHKB Gene

Suggested Antigen Peptide Sequences for CHKB Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y259

UniProtKB/Swiss-Prot:

CHKB_HUMAN :
  • Belongs to the choline/ethanolamine kinase family.
Family:
  • Belongs to the choline/ethanolamine kinase family.
genes like me logo Genes that share domains with CHKB: view

No data available for Gene Families for CHKB Gene

Function for CHKB Gene

Molecular function for CHKB Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.57 mM for choline {ECO:0000269 PubMed:19915674}; KM=2.9 mM for ethanolamine {ECO:0000269 PubMed:19915674};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + choline = ADP + phosphocholine.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + ethanolamine = ADP + O-phosphoethanolamine.
UniProtKB/Swiss-Prot Function:
Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.

Enzyme Numbers (IUBMB) for CHKB Gene

genes like me logo Genes that share phenotypes with CHKB: view

Human Phenotype Ontology for CHKB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CHKB

miRNA for CHKB Gene

miRTarBase miRNAs that target CHKB

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CHKB Gene

Localization for CHKB Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHKB Gene COMPARTMENTS Subcellular localization image for CHKB gene
Compartment Confidence
cytosol 4
mitochondrion 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CHKB Gene

Pathways & Interactions for CHKB Gene

genes like me logo Genes that share pathways with CHKB: view

UniProtKB/Swiss-Prot Q9Y259-CHKB_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.

Gene Ontology (GO) - Biological Process for CHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0006657 CDP-choline pathway IEA,TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CHKB: view

No data available for SIGNOR curated interactions for CHKB Gene

Drugs & Compounds for CHKB Gene

(90) Drugs for CHKB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Enzyme, substrate 139
Adenosine triphosphate Approved Nutra 0
Ethanolamine Experimental Pharma 0
O-Phosphoethanolamine Experimental Pharma 0
Phosphocholine Experimental Pharma 0

(61) Additional Compounds for CHKB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with CHKB: view

Transcripts for CHKB Gene

Unigene Clusters for CHKB Gene

Choline kinase beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHKB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ·
SP1: - - - - - - -
SP2:
SP3:
SP4:
SP5: - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - - - -
SP10:
SP11:
SP12: - - - - -
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: - -
SP23: -
SP24:
SP25:
SP26:
SP27:
SP28: -
SP29:

ExUns: 13c ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b · 18c · 18d ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - -
SP11:
SP12:
SP13: - - - - - - - - -
SP14: - - - - - -
SP15:
SP16: - - - -
SP17: - - - -
SP18: - - - -
SP19: - - - - -
SP20: - - - -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:

ExUns: 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: -
SP28:
SP29:

Relevant External Links for CHKB Gene

GeneLoc Exon Structure for
CHKB
ECgene alternative splicing isoforms for
CHKB

Expression for CHKB Gene

mRNA expression in normal human tissues for CHKB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHKB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHKB Gene



SOURCE GeneReport for Unigene cluster for CHKB Gene Hs.654827

genes like me logo Genes that share expression patterns with CHKB: view

Protein tissue co-expression partners for CHKB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHKB Gene

Orthologs for CHKB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHKB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHKB 35
  • 88.95 (n)
  • 88.35 (a)
CHKB 36
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CHKB 35
  • 89.28 (n)
  • 90.38 (a)
-- 36
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Chkb 35
  • 85.11 (n)
  • 86.04 (a)
Chkb 16
Chkb 36
  • 86 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CHKB 35
  • 99.58 (n)
  • 99.75 (a)
CHKB 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Chkb 35
  • 85.58 (n)
  • 85.24 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia chkb 35
  • 60.59 (n)
  • 65.24 (a)
zebrafish
(Danio rerio)
Actinopterygii chkb 35
  • 62.95 (n)
  • 63.14 (a)
chkb 36
  • 49 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007957 35
  • 53.09 (n)
  • 47.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2201 35
  • 49.46 (n)
  • 39.73 (a)
CG2201 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cka-1 35
  • 49.95 (n)
  • 43.32 (a)
cka-1 36
  • 30 (a)
ManyToMany
cka-2 36
  • 37 (a)
ManyToMany
ckb-1 36
  • 25 (a)
ManyToMany
ckb-2 36
  • 24 (a)
ManyToMany
ckb-3 36
  • 24 (a)
ManyToMany
ckb-4 36
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CKI1 36
  • 16 (a)
ManyToMany
EKI1 36
  • 16 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G74320 35
  • 46.89 (n)
  • 36.34 (a)
rice
(Oryza sativa)
Liliopsida Os05g0535400 35
  • 50 (n)
  • 34.62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for CHKB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHKB Gene

ENSEMBL:
Gene Tree for CHKB (if available)
TreeFam:
Gene Tree for CHKB (if available)

Paralogs for CHKB Gene

Paralogs for CHKB Gene

(2) SIMAP similar genes for CHKB Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHKB: view

Variants for CHKB Gene

Structural Variations from Database of Genomic Variants (DGV) for CHKB Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914525 CNV Loss 21882294
dgv5062n71 CNV Loss 21882294
nsv471224 CNV Loss 18288195
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
nsv834239 CNV Loss 17160897
dgv1422e1 CNV Complex 17122850
dgv5066n71 CNV Loss 21882294
nsv829340 CNV Gain 20364138
dgv5067n71 CNV Loss 21882294
nsv914559 CNV Loss 21882294
nsv914561 CNV Loss 21882294
dgv5068n71 CNV Loss 21882294

Variation tolerance for CHKB Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHKB Gene

HapMap Linkage Disequilibrium report
CHKB
Human Gene Mutation Database (HGMD)
CHKB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for CHKB Gene

Disorders for CHKB Gene

MalaCards: The human disease database

(32) MalaCards diseases for CHKB Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, congenital, megaconial type
  • congenital megaconial myopathy
chkb-related muscle diseases
myositis
  • inflammatory disorder of muscle
compartment syndrome
  • compartmental syndrome, nos
myoblastoma
  • benign granular cell tumor
- elite association - COSMIC cancer census association via MalaCards
Search CHKB in MalaCards View complete list of genes associated with diseases

Relevant External Links for CHKB

Genetic Association Database (GAD)
CHKB
Human Genome Epidemiology (HuGE) Navigator
CHKB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHKB
genes like me logo Genes that share disorders with CHKB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHKB Gene

Publications for CHKB Gene

  1. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) RuaA+o G. … Wu A.H. (Pharmacogenomics 2010) 3 48 67
  2. Structure and function of choline kinase isoforms in mammalian cells. (PMID: 15003397) Aoyama C. … Ishidate K. (Prog. Lipid Res. 2004) 2 3
  3. New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing. (PMID: 25740612) Oliveira J. … Sousa M. (J. Hum. Genet. 2015) 3
  4. Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons. (PMID: 24571861) Cingoz S. … Baklan B. (Genet Test Mol Biomarkers 2014) 3
  5. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. (PMID: 23692895) Quinlivan R. … Straub V. (Neuromuscul. Disord. 2013) 3

Products for CHKB Gene

Sources for CHKB Gene

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